MCID: CNG413
MIFTS: 37

Congenital Short Bowel Syndrome

Categories: Genetic diseases, Gastrointestinal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Short Bowel Syndrome

MalaCards integrated aliases for Congenital Short Bowel Syndrome:

Name: Congenital Short Bowel Syndrome 54 24 56 71 29 13
Congenital Short Bowel and Malrotation Syndrome 71 13
Intestinal Pseudo-Obstruction 69
Csbm 71
Csbs 71

Characteristics:

Orphanet epidemiological data:

56
congenital short bowel syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
high infant mortality due to malnutrition as well as complications of parenteral nutrition


Classifications:



Summaries for Congenital Short Bowel Syndrome

UniProtKB/Swiss-Prot : 71 Congenital short bowel syndrome: A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life.

MalaCards based summary : Congenital Short Bowel Syndrome, also known as congenital short bowel and malrotation syndrome, is related to intestinal pseudoobstruction, neuronal and cockayne syndrome, and has symptoms including short stature, cognitive impairment and intestinal malrotation. An important gene associated with Congenital Short Bowel Syndrome is CLMP (CXADR Like Membrane Protein). The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and pancreas.

OMIM : 54
Infants with congenital short bowel syndrome are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012). (615237)

Related Diseases for Congenital Short Bowel Syndrome

Diseases in the Short Bowel Syndrome family:

Congenital Short Bowel Syndrome Secondary Short Bowel Syndrome

Diseases related to Congenital Short Bowel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
id Related Disease Score Top Affiliating Genes
1 intestinal pseudoobstruction, neuronal 11.6
2 cockayne syndrome 11.3
3 intestinal pseudo-obstruction 10.9
4 ercc6-related cockayne syndrome 10.8
5 craniosynostosis 2 10.8
6 cockayne syndrome, type b 10.8
7 cockayne syndrome type iii 10.8
8 cockayne syndrome type i 10.8
9 cockayne syndrome type ii 10.8
10 short bowel syndrome 10.3
11 cerebro-oculo-facio-skeletal syndrome 10.0
12 acheiria 9.7
13 lipomatosis 9.7
14 intestinal obstruction 9.7
15 frontometaphyseal dysplasia 1 9.5 CLMP FLNA
16 tropical sprue 9.5 CLMP FLNA
17 holoprosencephaly 11 9.4 CLMP FLNA
18 hidrocystoma 9.2 CLMP FLNA

Graphical network of the top 20 diseases related to Congenital Short Bowel Syndrome:



Diseases related to Congenital Short Bowel Syndrome

Symptoms & Phenotypes for Congenital Short Bowel Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth:
failure to thrive

Abdomen- Gastroin testinal:
intestinal malrotation
chronic diarrhea
steatorrhea
vomiting (in some patients)
severely shortened small intestine
more

Clinical features from OMIM:

615237

Human phenotypes related to Congenital Short Bowel Syndrome:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 cognitive impairment 56 32 frequent (33%) Frequent (79-30%) HP:0100543
3 intestinal malrotation 56 32 frequent (33%) Frequent (79-30%) HP:0002566
4 hypotrichosis 56 32 frequent (33%) Frequent (79-30%) HP:0001006
5 lipoatrophy 56 32 frequent (33%) Frequent (79-30%) HP:0100578
6 displacement of the external urethral meatus 56 32 occasional (7.5%) Occasional (29-5%) HP:0100627
7 intestinal hypoplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0005245
8 failure to thrive 32 HP:0001508
9 vomiting 32 occasional (7.5%) HP:0002013
10 chronic diarrhea 32 HP:0002028
11 steatorrhea 32 HP:0002570

Drugs & Therapeutics for Congenital Short Bowel Syndrome

Drugs for Congenital Short Bowel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7 Thiotepa Approved Phase 2 52-24-4 5453
8 Tocopherol Approved, Nutraceutical Phase 2
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Pharmaceutical Solutions Phase 2
11 Alkylating Agents Phase 2
12 Antilymphocyte Serum Phase 2
13 Antimetabolites Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Immunosuppressive Agents Phase 2
16 N-monoacetylcystine Phase 2
17 Thioctic Acid Phase 2
18 Tocopherols Phase 2
19 Tocotrienols Phase 2
20 Vitamins Phase 2
21 Gastrointestinal Agents Phase 1, Phase 2
22 glucagon Phase 1, Phase 2
23 Glucagon-Like Peptide 1 Phase 1, Phase 2
24 Hormone Antagonists Phase 1, Phase 2
25 Hormones Phase 1, Phase 2
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
27 Incretins Phase 1, Phase 2
28 Alpha-lipoic Acid Nutraceutical Phase 2
29 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section Completed NCT01131416 Phase 2, Phase 3
2 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer Withdrawn NCT01389986 Phase 2, Phase 3
3 Daikenchuto for Intestinal Dysmotility and Prevention of Postoperative Paralytic Ielus After Pancreaticoduodenectomy Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
4 Efficacy Study of Prucalopride to Treat Chronic Intestinal Pseudo-Obstruction (CIP) Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
5 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 Acupuncture to Prevent Postoperative Bowel Paralysis (Paralytic Ileus) Terminated NCT00065234 Phase 2
7 Safety and Dosing Study of Glucagon-like Peptide 2 (GLP-2) in Infants and Children With Intestinal Failure Terminated NCT01573286 Phase 1, Phase 2 Glucagon-Like Peptide 2;Glucagon like peptide-2
8 Elemental Formula in Neonates Post Small Bowel Resection: Improved Weaning From Total Parenteral Nutrition? Unknown status NCT01891279
9 Efficacy and Safety of Fecal Microbiota Transplantation for Chronic Intestinal Pseudo-obstruction Completed NCT02731183
10 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
11 Measurement of Body Composition by Air Displacement Plethysmography in Pediatric Intestinal Failure Patients Recruiting NCT02561819
12 Effects of Laser Acupuncture Therapy on Paralytic Ileus Recruiting NCT03041675
13 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815

Search NIH Clinical Center for Congenital Short Bowel Syndrome

Genetic Tests for Congenital Short Bowel Syndrome

Genetic tests related to Congenital Short Bowel Syndrome:

id Genetic test Affiliating Genes
1 Congenital Short Bowel Syndrome 29 24 CLMP

Anatomical Context for Congenital Short Bowel Syndrome

MalaCards organs/tissues related to Congenital Short Bowel Syndrome:

39
Small Intestine, Liver, Pancreas

Publications for Congenital Short Bowel Syndrome

Articles related to Congenital Short Bowel Syndrome:

(show all 19)
id Title Authors Year
1
Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome. ( 27720179 )
2016
2
Congenital Short Bowel Syndrome due to Absent Midgut. ( 27150813 )
2016
3
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. ( 27352967 )
2016
4
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. ( 26282049 )
2015
5
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. ( 23037936 )
2013
6
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. ( 22155368 )
2012
7
Gastric heterotopia with extensive involvement of the small intestine associated with congenital short bowel syndrome and intestinal malrotation. ( 21204668 )
2011
8
Case report: Congenital short bowel syndrome. ( 21042453 )
2010
9
Ectopic drainage of the common bile duct into the lesser curvature of the gastric antrum in a newborn with pyloric atresia, annular pancreas and congenital short bowel syndrome. ( 18818913 )
2009
10
Congenital short bowel syndrome: a case report and review of the literature. ( 18209785 )
2008
11
Long-term outcome of a patient with congenital short bowel syndrome. ( 16707984 )
2006
12
Successful pregnancy following maternal small bowel reconstruction for congenital short bowel syndrome. ( 16398781 )
2006
13
Congenital short bowel syndrome with malrotation. ( 15508878 )
2004
14
Gastrocolocutaneous fistula in a child with congenital short bowel syndrome: a rare complication of percutaneous endoscopic gastrostomy. ( 15175828 )
2004
15
Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome. ( 12022328 )
2002
16
Congenital short bowel syndrome associated with appendiceal agenesis and functional intestinal obstruction. ( 9574778 )
1998
17
Congenital short-bowel syndrome: prenatal sonographic findings of a fatal anomaly. ( 9460641 )
1998
18
Congenital short bowel syndrome with left acheiria: report of one case. ( 9401186 )
1997
19
Congenital short bowel syndrome: report of a case treated with home central parenteral nutrition. ( 1358321 )
1992

Variations for Congenital Short Bowel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Congenital Short Bowel Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 CLMP p.Val124Asp VAR_069713 rs587776967

ClinVar genetic disease variations for Congenital Short Bowel Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh37 Chromosome 11, 122955378: 122955378
2 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh37 Chromosome 11, 122945410: 122945410
3 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh37 Chromosome 11, 122953808: 122953808
4 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh37 Chromosome 11, 122955237: 122955237
5 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh38 Chromosome 11, 123083728: 123083728

Expression for Congenital Short Bowel Syndrome

Search GEO for disease gene expression data for Congenital Short Bowel Syndrome.

Pathways for Congenital Short Bowel Syndrome

GO Terms for Congenital Short Bowel Syndrome

Sources for Congenital Short Bowel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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